Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Enpp4'

89966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpp4

Ensembl Gene

ENSMUSG00000023961

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4

Synonyms

LOC224794, 4933413N07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

44407199-44416700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44410494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 361 (K361E)

Ref Sequence

ENSEMBL: ENSMUSP00000114429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]

AlphaFold

Q8BTJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024757
AA Change: K361E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: K361E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	9e-85	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143137
AA Change: K361E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: K361E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	5.7e-80	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (GRCm39)		probably null	Het

Other mutations in Enpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Enpp4	APN	17	44,413,049 (GRCm39)	missense	probably benign	0.22
IGL02451:Enpp4	APN	17	44,412,315 (GRCm39)	missense	probably damaging	1.00
IGL02879:Enpp4	APN	17	44,412,841 (GRCm39)	missense	probably benign	0.00
R0005:Enpp4	UTSW	17	44,413,066 (GRCm39)	missense	probably benign	0.04
R0540:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0607:Enpp4	UTSW	17	44,410,386 (GRCm39)	missense	probably damaging	1.00
R0942:Enpp4	UTSW	17	44,412,772 (GRCm39)	nonsense	probably null
R1334:Enpp4	UTSW	17	44,413,259 (GRCm39)	missense	probably benign	0.02
R1632:Enpp4	UTSW	17	44,410,544 (GRCm39)	missense	probably damaging	0.99
R2567:Enpp4	UTSW	17	44,412,736 (GRCm39)	missense	probably damaging	0.97
R4272:Enpp4	UTSW	17	44,412,698 (GRCm39)	missense	probably benign	0.01
R4273:Enpp4	UTSW	17	44,412,698 (GRCm39)	missense	probably benign	0.01
R4750:Enpp4	UTSW	17	44,413,246 (GRCm39)	missense	probably damaging	1.00
R6267:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R6296:Enpp4	UTSW	17	44,413,371 (GRCm39)	missense	probably benign	0.00
R7180:Enpp4	UTSW	17	44,412,928 (GRCm39)	missense	probably benign	0.03
R8036:Enpp4	UTSW	17	44,413,136 (GRCm39)	missense	possibly damaging	0.81
R8135:Enpp4	UTSW	17	44,412,226 (GRCm39)	missense	probably benign	0.00
R9168:Enpp4	UTSW	17	44,413,141 (GRCm39)	missense	probably damaging	0.99
R9209:Enpp4	UTSW	17	44,412,252 (GRCm39)	nonsense	probably null

Posted On

2013-12-03